ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3021G>A (p.Leu1007=)

gnomAD frequency: 0.00001  dbSNP: rs764203356
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001503785 SCV001708643 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-02-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235436 SCV003934313 likely benign not specified 2023-05-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004319 SCV004829296 likely benign Marfan syndrome 2023-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619461 SCV005113196 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-06-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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